{"disease":{"id":"OMIM:605820","name":"Nonaka myopathy","mondoId":"MONDO:0011603","description":"Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."},"categories":{"Limbs":[{"id":"HP:0009053","name":"Distal lower limb muscle weakness","metadata":{"sex":"","onset":"HP:0003581","frequency":"6/9","sources":["PMID:12177386"]},"category":"Limbs"}],"Clinical course":[{"id":"HP:0003581","name":"Adult onset","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Clinical course"}],"Metabolism/Laboratory abnormality":[{"id":"HP:0003236","name":"Elevated circulating creatine kinase activity","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:12177386"]},"category":"Metabolism/Laboratory abnormality"}],"Nervous System":[{"id":"HP:0001288","name":"Gait disturbance","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Nervous System"}],"Inheritance":[{"id":"HP:0000007","name":"Autosomal recessive inheritance","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:12177386"]},"category":"Inheritance"}],"Musculature":[{"id":"HP:0003458","name":"EMG: myopathic abnormalities","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Musculature"},{"id":"HP:0003693","name":"Distal amyotrophy","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Musculature"},{"id":"HP:0003791","name":"Deposits immunoreactive to beta-amyloid protein","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Musculature"},{"id":"HP:0002460","name":"Distal muscle weakness","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:605820"]},"category":"Musculature"},{"id":"HP:0003805","name":"Rimmed vacuoles","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:12177386"]},"category":"Musculature"}]},"genes":[{"id":"NCBIGene:10020","name":"GNE"}],"medicalActions":[]}